Canonical Allele Identifier: CA525433041

Gene: CASQ2

Linked Data

• dbSNP Id: rs1399233876
• gnomAD v2: 1-116273724-T-G
• gnomAD v3: 1-115731103-T-G
• gnomAD v4: 1-115731103-T-G
• MyVariant Identifiers: chr1:g.116273724T>G (hg19) ; chr1:g.115731103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115731103T>G , CM000663.2:g.115731103T>G	GRCh38
NC_000001.10:g.116273724T>G , CM000663.1:g.116273724T>G	GRCh37
NC_000001.9:g.116075247T>G	NCBI36
NG_008802.1:g.42703A>C , LRG_404:g.42703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.425+1011A>C	ENSP00000518226.1:n.425+1011A>C
ENST00000261448.6:c.606+1798A>C MANE Select	ENSP00000261448.5:n.606+1798A>C
ENST00000261448.5:c.606+1798A>C	ENSP00000261448.5:n.606+1798A>C
ENST00000488931.1:n.122+1011A>C
NM_001232.3:c.606+1798A>C , LRG_404t1:c.606+1798A>C	NP_001223.2:n.606+1798A>C
NM_001232.4:c.606+1798A>C MANE Select	NP_001223.2:n.606+1798A>C